Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome

Abstract

ClinicalTrials.gov: NCT00348946.

Impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs)

“…Although the incidence of sex chromosome aneuploidies (SCAs) is estimated to be one in every 500 live births, between 75% and 90% of cases remain undiagnosed in their lifetime . Children with these disorders present with dysfunction in speech, language, and motor development . The phenotype spans a wide range of associated symptoms that vary in severity depending on the specific SCA, timing of diagnosis, and family history …”

“…Over 50 years of publications have demonstrated significant evidence to the importance of early identification of SCAs and the positive impact of early intervention on neurodevelopmental outcomes . These studies have also shown that children prenatally diagnosed with an SCA have less neurodevelopmental dysfunction, fewer behavioral disturbances, and IQs within or above the normal limits.…”

“…These studies have also shown that children prenatally diagnosed with an SCA have less neurodevelopmental dysfunction, fewer behavioral disturbances, and IQs within or above the normal limits. Families with children prenatally diagnosed with an SCA were less likely to see deficits and had relatively unaffected or mildly affected children . With a prenatal diagnosis, the option of proactive implementation of interventions, such as speech therapy, physical therapy, and hormonal replacement therapy for boys with additive X chromosomes, becomes available earlier and provides the opportunity for the patient to seek treatment before development has become significantly delayed …”

“…1,2 Children with these disorders present with dysfunction in speech, language, and motor development. [3][4][5][6][7][8][9] The phenotype spans a wide range of associated symptoms that vary in severity depending on the specific SCA, timing of diagnosis, and family history. 7,8,[10][11][12][13] Because of the lack of characteristic and unusual physical features in 47,XXY (Klinefelter syndrome, KS), and 47,XYY, the rate of diagnosis remains markedly diminished, despite estimated incidence rates of one in 660 and one in 1000, respectively.…”

“…9,12,13,34 With a prenatal diagnosis, the option of proactive implementation of interventions, such as speech therapy, physical therapy, and hormonal replacement therapy for boys with additive X chromosomes, becomes available earlier and provides the opportunity for the patient to seek treatment before development has become significantly delayed. 9 Invasive procedures for prenatal testing such as amniocentesis and chorionic villus sampling (CVS) were created as diagnostic options for high-risk mothers because of advanced maternal age or a family history of genetic disorders. 36 These procedures typically screened for common autosomal abnormalities, such as trisomies 13, 18, and 21, and yielded the identification of fetuses with SCAs.…”